{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T02:41:28Z","timestamp":1770777688106,"version":"3.50.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T00:00:00Z","timestamp":1298937600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy Research"],"published-print":{"date-parts":[[2011,3]]},"DOI":"10.1016\/j.eplepsyres.2011.01.013","type":"journal-article","created":{"date-parts":[[2011,2,17]],"date-time":"2011-02-17T07:24:20Z","timestamp":1297927460000},"page":"86-93","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["Characterization of severe action myoclonus in sialidoses"],"prefix":"10.1016","volume":"94","author":[{"given":"Laura","family":"Canafoglia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Franceschetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graziella","family":"Uziel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Ciano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vidmer","family":"Scaioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Visani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferruccio","family":"Panzica","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0005","first-page":"266","article-title":"Sialidosis type I: pathological study in an adult","volume":"8","author":"Allegranza","year":"1989","journal-title":"Clin. Neuropathol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0010","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/0010-4809(86)90026-1","article-title":"Spectral and cross-spectral analysis of heart rate and arterial blood pressure variability signals","volume":"19","author":"Baselli","year":"1986","journal-title":"Comput. Biomed. Res."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0015","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.1093\/hmg\/9.18.2715","article-title":"Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis","volume":"9","author":"Bonten","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0020","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1093\/brain\/119.4.1307","article-title":"Rhythmic cortical and muscle discharge in cortical myoclonus","volume":"119","author":"Brown","year":"1996","journal-title":"Brain"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0025","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1093\/brain\/122.3.461","article-title":"Coherent cortical and muscle discharge in cortical myoclonus","volume":"122","author":"Brown","year":"1999","journal-title":"Brain"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0030","doi-asserted-by":"crossref","first-page":"2309","DOI":"10.1212\/01.WNL.0000147475.71345.AA","article-title":"Sensorimotor cortex excitability in Unverricht\u2013Lundborg disease and Lafora body disease","volume":"63","author":"Canafoglia","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0035","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.eplepsyres.2010.01.006","article-title":"Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease","volume":"89","author":"Canafoglia","year":"2010","journal-title":"Epilepsy Res."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0040","first-page":"433","article-title":"Electrically evoked long loop responses (LLR): normative data for upper and lower extremities","volume":"29","author":"Deletis","year":"1989","journal-title":"Electromyogr. Clin. Neurophysiol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0045","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1136\/jnnp.43.10.934","article-title":"Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult","volume":"43","author":"Franceschetti","year":"1980","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0050","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.nbd.2006.11.006","article-title":"A pathogenetic hypothesis of Unverricht\u2013Lundborg disease onset and progression","volume":"25","author":"Franceschetti","year":"2007","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0055","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.eplepsyres.2009.02.015","article-title":"Altered cortical inhibition in Unverricht\u2013Lundborg type progressive myoclonus epilepsy (EPM1)","volume":"85","author":"Danner","year":"2009","journal-title":"Epilepsy Res."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0060","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1093\/brain\/awg043","article-title":"Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus","volume":"126","author":"Grosse","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0065","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.clinph.2008.02.009","article-title":"Difference in intracortical inhibition of the motor cortex between cortical myoclonus and focal hand dystonia","volume":"119","author":"Hanajima","year":"2008","journal-title":"Clin. Neurophysiol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0070","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1016\/j.clinph.2008.01.023","article-title":"Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I","volume":"119","author":"Huang","year":"2008","journal-title":"Clin. Neurophysiol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0075","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/j.1528-1167.2008.01546.x","article-title":"Clinical picture of EPM1-Unverricht\u2013Lundborg disease","volume":"49","author":"K\u00e4lvi\u00e4inen","year":"2008","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0080","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1212\/WNL.0b013e3181b3888b","article-title":"Motor cortex and thalamic atrophy in Unverricht\u2013Lundborg disease: voxel-based morphometric study","volume":"73","author":"Koskenkorva","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0085","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1111\/j.1468-1331.2009.02622.x","article-title":"A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome","volume":"16","author":"Lai","year":"2009","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0090","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1038\/386847a0","article-title":"Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy","volume":"386","author":"Lalioti","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0095","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1093\/hmg\/10.18.1867","article-title":"Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes","volume":"10","author":"Lieuallen","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0100","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1111\/j.0013-9580.2004.56902.x","article-title":"Antimyoclonic effect of levetiracetam in 13 patients with Unverricht\u2013Lundborg disease: clinical observations","volume":"45","author":"Magaudda","year":"2004","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0105","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1111\/j.1528-1167.2006.00553.x","article-title":"Unverricht\u2013Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients","volume":"47","author":"Magaudda","year":"2006","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0110","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1016\/0006-291X(77)91124-X","article-title":"Neuraminidase deficiency in the cherry red spot-myoclonus syndrome","volume":"79","author":"O\u2019Brien","year":"1977","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0115","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/S1388-2457(03)00066-X","article-title":"Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG\u2013EMG relationship estimated using autoregressive models","volume":"114","author":"Panzica","year":"2003","journal-title":"Clin. Neurophysiol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0120","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1528-1167.2009.02117.x","article-title":"The autosomal recessively inherited progressive myoclonus epilepsies and their genes","volume":"50","author":"Ramachandran","year":"2009","journal-title":"Epilepsia"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0125","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/ana.410030309","article-title":"The cherry-red spot myoclonus syndrome","volume":"3","author":"Rapin","year":"1978","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0130","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0013-4694(94)90029-9","article-title":"Non-invasive electrical and magnetic stimulation of the brain, spinal cord and roots: basic principles and procedures for routine clinical application. Report of an IFCN committee","volume":"91","author":"Rossini","year":"1994","journal-title":"Electroencephalogr. Clin. Neurophysiol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0135","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/0013-4694(75)90046-2","article-title":"Electroencephalographic correlates of myoclonus","volume":"39","author":"Shibasaki","year":"1975","journal-title":"Electroencephalogr. Clin. Neurophysiol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0140","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1093\/brain\/108.1.225","article-title":"Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy","volume":"108","author":"Shibasaki","year":"1985","journal-title":"Brain"},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0145","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.1016\/S1388-2457(02)00196-7","article-title":"Oscillatory cortical drive to isometrically contracting muscle in Unverricht\u2013Lundborg type progressive myoclonus epilepsy (ULD)","volume":"113","author":"Sil\u00e9n","year":"2002","journal-title":"Clin. Neurophysiol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0150","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/0013-4694(85)90944-7","article-title":"Electrophysiological studies of myoclonus in sialidosis type 2","volume":"60","author":"Tobimatsu","year":"1985","journal-title":"Electroencephalogr. Clin. Neurophysiol."},{"key":"10.1016\/j.eplepsyres.2011.01.013_bib0155","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1016\/S1388-2457(03)00126-3","article-title":"Exaggerated 16\u201320Hz motor cortical oscillation in patients with positive or negative myoclonus","volume":"114","author":"Ugawa","year":"2003","journal-title":"Clin. Neurophysiol."}],"container-title":["Epilepsy Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0920121111000325?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0920121111000325?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T13:25:02Z","timestamp":1760275502000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0920121111000325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3]]},"references-count":31,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2011,3]]}},"alternative-id":["S0920121111000325"],"URL":"https:\/\/doi.org\/10.1016\/j.eplepsyres.2011.01.013","relation":{},"ISSN":["0920-1211"],"issn-type":[{"value":"0920-1211","type":"print"}],"subject":[],"published":{"date-parts":[[2011,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Characterization of severe action myoclonus in sialidoses","name":"articletitle","label":"Article Title"},{"value":"Epilepsy Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.eplepsyres.2011.01.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}